QUAD #22: What is CHARGE syndrome? with Dr. Catherine Hart

In this educational video, Dr. Catherine Hart, ENT surgeon at Cincinnati Children’s, provides an overview of CHARGE syndrome, a rare genetic disorder that affects multiple organ systems. Learn about its diagnosis, clinical features, and the comprehensive care required for patients with this condition.

Host: Em Gootee, MD

Key Highlights:

What is CHARGE Syndrome? The acronym stands for coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital/urinary anomalies, and ear malformations.

Causes and Diagnosis: CHARGE is typically caused by a CHD7 mutation on chromosome 8 but can also be diagnosed clinically with specific major and minor criteria.

Multisystem Impact: The syndrome’s highly variable expression means it can affect almost every organ system, requiring coordinated care.

Care through an Aerodigestive Center: The Aerodigestive Center at Cincinnati Children’s ensures comprehensive management of airway, feeding, and developmental challenges.

Learn how Cincinnati Children’s provides expert care for patients with CHARGE syndrome, helping them overcome complex challenges and improve quality of life. Don’t forget to like, comment, and subscribe for more pediatric insights!

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